Genetic variants

Variation statistics

The statistics page shows an overview of all non-olfactory receptors with their absolute and relative numbers of reported genetic missense variants. The average density (absolute count divided by length of receptor) is presented for each receptor family, ligand type and class.

Receptor variant browser

The selection page allows users to find a receptor by searching or browsing. The browser displays all missense and loss of function mutations for the selected receptor. Additional information for each variant is presented such as position, amino acid change, allele counts/frequencies, number of homozygotes, predicted functional impact by SIFT and PolyPhen as well as functional annotation of the specific position (PTM site, ligand-binding site, micro-switch, G protein interaction ..)

All variants are highlighted on helix plot and snake-plot diagrams with predicted deleterious variants (by either SIFT or PolyPhen) highlighted in red or green, respectively.

  • Hauser, A. S., Chavali, S., Masuho, I., Jahn, L. J., Martemyanov, K., Gloriam, D. E., Babu, M. M., “Pharmacogenomics of GPCR drug targets”, 2017, Cell 10.1016/j.cell.2017.11.033